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nsv4674680

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:20,976,164
  • Description:GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 53244 SVs from 132 studies. See in: genome view    
Remapped(Score: Perfect):169,899,902-190,876,065Question Mark
Overlapping variant regions from other studies: 53249 SVs from 132 studies. See in: genome view    
Submitted genomic169,617,690-190,593,854Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4674680RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000003.12Chr3169,899,902190,876,065
nsv4674680Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000003.11Chr3169,617,690190,593,854

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16207928copy number gainMultipleMultiplenot providedPathogenicClinVarRCV001005487.1, VCV000814497.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16207928RemappedPerfectNC_000003.12:g.(?_
169899902)_(190876
065_?)dup
GRCh38.p12First PassNC_000003.12Chr3169,899,902190,876,065
nssv16207928Submitted genomicNC_000003.11:g.(?_
169617690)_(190593
854_?)dup
GRCh37 (hg19)NC_000003.11Chr3169,617,690190,593,854

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16207928GRCh37: NC_000003.11:g.(?_169617690)_(190593854_?)dupcopy number gaingermlinenot providedPathogenicClinVarRCV001005487.1, VCV000814497.13

No genotype data were submitted for this variant

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